Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
about
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressGlucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.Mutation analysis of 12 genes in Chinese families with congenital cataracts.Performance of computational tools in evaluating the functional impact of laboratory-induced amino acid mutationsTHAP1 mutations and dystonia phenotypes: genotype phenotype correlations.Computational Pathology: A Path Ahead.Single nucleotide polymorphism and its dynamics for pharmacogenomics.Elucidation of the genetic and epigenetic landscape alterations in RNA binding proteins in glioblastoma.Novel variations in the adiponectin gene (ADIPOQ) may affect distribution of oligomeric complexes.Novel CYP2B6 enzyme variants in a Rwandese population: functional characterization and assessment of in silico prediction tools.Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia.
P2860
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P2860
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Mutation prediction by PolyPhe ...... of CYP27B1 missense mutations.
@en
Mutation prediction by PolyPhe ...... of CYP27B1 missense mutations.
@nl
type
label
Mutation prediction by PolyPhe ...... of CYP27B1 missense mutations.
@en
Mutation prediction by PolyPhe ...... of CYP27B1 missense mutations.
@nl
prefLabel
Mutation prediction by PolyPhe ...... of CYP27B1 missense mutations.
@en
Mutation prediction by PolyPhe ...... of CYP27B1 missense mutations.
@nl
P2093
P2860
P1433
P1476
Mutation prediction by PolyPhe ...... of CYP27B1 missense mutations.
@en
P2093
Ali S Alzahrani
Essa Y Baitei
Futwan A Al-Mohanna
Minjing Zou
Ranjit S Parhar
P2860
P2888
P356
10.1007/S12020-011-9489-7
P577
2011-05-21T00:00:00Z
P6179
1010733827